Gaucher disease

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Gaucher disease is a type of lysosomal storage disorder called a sphingolipidosis. It is caused by a buildup of glucocerebrosides in tissues. Children who have the infantile form usually die within 2 years, but children and adults who develop the disease later in life may survive for many years. Gaucher disease occurs when parents pass the defective gene that causes this disease on to their children.

Gaucher disease occurs when the body lacks enzymes needed to break down glucocerebrosides.
Symptoms vary by type but may include liver, spleen, and bone problems.
The diagnosis is based on blood tests.
People who have types 1 and 3 Gaucher disease may be helped by enzyme replacement therapy and sometimes drugs.
Type 2 Gaucher disease causes premature death.

There are different types of inherited disorders. In many hereditary metabolic disorders, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. Some hereditary metabolic disorders Fabry Disease are X-linked, which means only one copy of the abnormal gene can cause the disorder in boys. (See also Overview of Hereditary Metabolic Disorders.)
Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses besides Gaucher disease, which is the most common:

Fabry disease
Krabbe disease
Metachromatic leukodystrophy
Niemann-Pick disease (types A and
Sandhoff disease
Tay-Sachs disease

In Gaucher disease, glucocerebrosides, which are a product of fat metabolism, accumulate in tissues. The disease is most common among Ashkenazi (Eastern European) Jews. Gaucher disease leads to an enlarged liver and spleen and a brownish pigmentation of the skin. Accumulations of glucocerebrosides in the eyes cause yellow spots called pingueculae to appear. Accumulations in the bone marrow can cause pain and destroy bone.